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Congenital limb and hand anomalies
TopicLeading institutions, researchers & key papers
This cluster of papers focuses on genetic and developmental studies of congenital limb anomalies, including polydactyly, syndactyly, and other malformations. It explores the genetic heterogeneity, mutations in CBP and EP300 genes, disruptions in Shh regulatory elements, upper extremity development, embryology, various classification systems, and epidemiological aspects related to limb anomalies.
35
Works
IDs:OpenAlex
How has Congenital limb and hand anomalies's publication output changed over time?
ScholarIQpublication output · 1995–2018
Output grew0% over the shown period — from 1 works in 1995 to 1 in 2018.
1
1
1
1
1
1
2
1
19952003200520062010201520162018
What are the most-cited papers on Congenital limb and hand anomalies?
ScholarIQmost cited works
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
Fred Petrif, Rachel H. Giles, Hans G. Dauwerse, Jasper J. Saris, Raoul C. M. Hennekam, Mitsuo Masuno, Niels Tommerup, Gert‐Jan B. van Ommen, Richard H. Goodman, Dorien J.M. Peters, Martijn H. Breuning
Nature. 19951,224 Citations
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek, Deborah Bartholdi, Dunja Niedrist, Francesco Papadia, Carlos A. Bacino, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Martijn H. Breuning, Raoul C. M. Hennekam, Dorien J.M. Peters
S134425043. 2005484 CitationsOPEN ACCESS
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik
S134425043. 2010169 CitationsOPEN ACCESS
Rubinstein‐Taybi syndrome medical guidelines
Susan Wiley, Susan Swayne, Jack H. Rubinstein, Nancy Lanphear, Cathy A. Stevens
American Journal of Medical Genetics Part A. 2003118 Citations
Rubinstein–Taybi syndrome in children with tethered spinal cord
Tomoko Tanaka, Benjamin Ling, Jack H. Rubinstein, Kerry R. Crone
Journal of Neurosurgery Pediatrics. 200624 Citations
Where is Congenital limb and hand anomalies research published, and who funds it?
ScholarIQvenues & funding sources
TOP JOURNALS
TOP FUNDERS
National Science Foundation—
NIH—
Wellcome Trust—
European Research Council—
Funder breakdown is a member featureSign up free to unlock
How much of the research on Congenital limb and hand anomalies is open access?
ScholarIQopen access share
44%OPEN ACCESS
Gold
22%
Green
0%
Hybrid
0%
Bronze
22%
Closed
56%
Related on ScholarIQ
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
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The epidemiology of radial head fractures
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LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
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Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial
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